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Presentation of the Unit

The Research Unit EA_1122; IGE-PCV is dedicated to the determination of the respective parts of genetic and environmental factors (including dietary habits and physical activity) influencing the predisposition to chronic diseases and their interactions.

More specifically, EA_1122; IGE-PCV 'Gene-Environment Interactions in Cardio-vascular Pathophysiology' has for many years focused on the epidemiological study of cardiovascular diseases, the second leading cause of mortality in France after cancer. Various risk factors are at the origin of the development of cardio-vascular pathologies, some of which are clearly established such as environmental factors (smoking, diet, sedentary lifestyle) and others that are not well known, notably genetic factors. The IGE-PCV Unit is therefore focused on highlighting these little-known factors, but also on studying the complex mechanisms that combine environment and genetics to lead to the development of cardio-vascular pathology. To this end, the Unit has been able to keep pace with scientific and technical advances in this field by setting up family designs based on the recruitment of the STANISLAS Cohort and by adopting integrative strategies involving the genome, transcriptome, epigenome and phenome as soon as they were introduced.

Thus, the Unit has initiated a multidisciplinary genetic epidemiology approach based on intermediate phenotypes related to cardio-vascular risk, which is based on :
- The study of gene-gene and gene-environment interactions involved in the inter-individual variability of intermediate phenotypes.
- The study of the heritability of intermediate phenotypes in family populations such as the STANISLAS Cohort (STANISLAS Family Study) - epidemiologie-france.aviesan.fr/catalog/sheet,
- Integrative exploitation of -omics data (genetic, epigenetic, transcriptomic)
- The development of methodologies combining gene-candidate, genome-wide and phenome-wide association studies.

In order to identify early markers, the Unit has developed an approach focused on apparently healthy populations and based on a genotype-intermediate phenotype, family, cross-sectional and/or longitudinal approach. This novel methodological approach integrates genomics, transcriptomics and proteomics (in the spirit of systems biology), with the aim of identifying functional polymorphisms that are useful in preventive and predictive terms. It involves a multidisciplinary strategy based on a close collaboration between epidemiologists, biochemists, molecular biologists, geneticists, biostatisticians and clinicians within this structure but also on a large network of collaborations. Thus, the work of the Unit's researchers has made possible to identify new biomarkers belonging to metabolic pathways involved in the regulation of blood pressure, lipid metabolism, cell adhesion and inflammation but also in the anthropometric characteristics of populations.

The Unit also maintained a strategy of constant adaptation to new methodologies, particularly in the field of high-throughput genotyping technology tools. Since 2007, the genome-wide approach in pediatric populations, which complements the initial gene-candidate approach, has been developed in partnership with teams with replication populations or thanks to integration into International Consortia dedicated to large-scale genome-wide studies. Recently, phenome-wide approaches, next-generation sequencing and epigenetics (EWAS) have been integrated into the team's overall approach. Aware of the fact that the evolution of genotyping analytical technologies goes hand in hand with that of biostatistics/bioinformatics methodologies and requires regular updating, the researchers have followed a strategy of methodological follow up and are actively engaged in a continuous training policy in order to keep their skills up to date in these fields.

A highlight of the Unit is the creation in 2002 of a Biological Resource Centre (BRC IGE-PCV ( BB-0033-00051), which is part of the biobank networks at national level with the 'Coordination of Life Sciences Infrastructures' (GIS) and at European level with the 'Biobanking and Biomolecular Resources Research Infrastructure' (BBMRI), FP7. This BRC constitutes an IBISA platform and is involved in the investment project 'BIOBANKS'.

Since 2002, the Team organizes a conference every 2 years in Santorini, Greece, under the name "Santorini Conference" (www.santoriniconference.org) on the theme of Personalised Medicine and Pharmacogenomics. This conference attracts around 200 researchers from all over the world.

In 2019, the director of the Unit, Sofia Siest, created the Association "The Santorini Conferences"; a non-profit society (law 1901) in order to :

- To perpetuate the organization of the "Santorini Conferences".
- Assist and promote the creation of consortia  
- Disseminating information
- Facilitating contacts between academic and non-academic research
- Assist in the organization of other congresses
- Give advice for calls for European projects
- Assist in the creation of positions for post-doctoral fellows and students

The objectives established for the Association are:
- To promote education and research in personalized medicine and pharmacogenomics based on potential biomarkers and clinical and environmental phenotypes (particularly in areas related to smoking, nutrition, exercise, sports, pain, etc.) in order to produce quality information for clinical and post-market applications and patients; the activities and management of the biological resources centers also fall within this objective ;
- To facilitate contacts between all those who share the objectives of the association;
- Integrate fundamental multidisciplinary approaches into research projects and transform these projects into clinical advances, through training and education of health professionals and the general public in the fields of pharmacogenetics, clinical pharmacology, clinical pathology and personalized medicine.

To achieve these objectives, the association organizes, co-organizes and supports meetings, symposia, conferences and other scientific gatherings and educational programs to produce information for use in clinical practice and to provide patients with information in the areas of personalized medicine, pharmacogenomics and personalized therapy based on potential biomarkers, environmental factors and clinical measurements.
The major event is the Santorini Conference, which is held every two years. A general meeting of the members of the association is held on the occasion of this event.
Other initiatives contributing to the objectives of the Association could also be undertaken, such as participation in grant applications, clinical trials, multi-center trials and biomarker evaluations, and the drafting and provision of independent expert advice in the areas of interest to the Association. The Association publishes its conference programs and abstracts in scientific journals.
As a general rule, the Association undertakes any action that facilitates the achievement of its objectives.

Membership:

  • 120 euros/year for individuals
  •   60 euros/year for students
  • 1200 euros/year for companies

2. INTERNATIONAL COLLABORATIONS
We have developed partnerships with specialized teams and collaborative networks with large cohorts such as:
- the Framingham cohort " National Heart Lung and Blood Institute " -NHLBI- (Framingham, Boston, USA), S. Seshadri on VEGF, since 2010;
- the LifeLines cohort (Netherlands), B. Alizadeh on VEGF and inflammation molecules, since 2013.

3. CONSORTIA
We have integrated large international consortia with complementary skills and replication populations:
- The MAGIC Consortium (Meta-Analyses of Glucose and Insulin-related traits Consortium), since 2008;
- The "CHARGE Consortium (Cohorts for Heart and Aging Research in Genomic Epidemiology)" - Inflammation working group", (Behrooz Alizadeh), since 2013.
- The "Social Science Genetics Association Consortium for Reproductive Behavior", University of Groningen, Jornt Mandemakers and Nicola Barban, since 2013;
- The Global Burden of Metabolic Risk Factors of Chronic Diseases Collaborating Group (NCD Risk Factor Collaboration - NCD-RisC), since 2014.

4. VEGF CONSORTIUM
The Unit created the VEGF - "Vascular endothelial growth factor European Genomic Federation" consortium in 2015, bringing together, under the leadership of the Director of the Unit, more than 20 partners from 12 different countries (including the USA and Canada) with world-renowned scientific expertise in different, but complementary fields to VEGF-A.